PICOGEN: five years experience with a genetic counselling program for dementia.
J Fortea1, A Lladó, J Clarimón
1Unidad de Alzheimer y otros trastornos cognitivos, Hospital Clínic de Barcelona, Barcelona, Spain.
Neurologia (Barcelona, Spain)
|December 18, 2010
Summary
Genetic counseling for familial dementias identified mutations in 22 patients, with autosomal dominant early-onset dementia (ADEOD) history being a key indicator. Pre-symptomatic genetic testing proved safe for at-risk individuals.
Area of Science:
- Neurogenetics
- Clinical Genetics
- Neurology
Background:
- The PICOGEN program details a 5-year experience with genetic counseling for familial dementias.
- Familial dementias encompass Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD), and prion diseases.
Purpose of the Study:
- To evaluate the effectiveness of a genetic counseling program for familial dementias.
- To assess the utility of family history in identifying pathogenic mutations.
- To determine the safety and uptake of pre-symptomatic genetic testing.
Main Methods:
- Neurological assessment for genetic testing candidate selection based on family history and phenotype.
- Structured psychiatric and psychological evaluation for asymptomatic at-risk individuals.
- Follow-up assessments to monitor for psychiatric complications.
Main Results:
- Genetic mutations were identified in 22 of 87 patients from 72 families, including 5 novel mutations.
- A family history of autosomal dominant early-onset dementia (ADEOD) was sensitive for detecting mutations in AD and FTLD, but not prion diseases.
- Of 54 at-risk asymptomatic subjects, 24 opted for pre-symptomatic testing, with 10 (42%) found to be mutation carriers. No major psychiatric complications were observed during follow-up.
Conclusions:
- Family history of ADEOD is a valuable screening criterion for mutations in AD and FTLD.
- Conventional genetic testing missed mutations in 15% of ADEOD cases.
- Pre-symptomatic genetic testing is safe and feasible for individuals at risk of familial dementias.
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